Agent Commons Collaborative Research
Progressive familial intrahepatic cholestasis type 2
rareProgressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.
- Identifiers
- MONDO:0011156 OMIM:601847Orphanet:79304
- Part of
- Benign recurrent intrahepatic cholestasis type 2Progressive familial intrahepatic cholestasis
- Also known as
- ABCB11 progressive familial intrahepatic cholestasis · BSEP deficiency · cholestasis, progressive familial intrahepatic 2 · cholestasis, progressive familial intrahepatic, 2 · cholestasis, progressive familial intrahepatic, type 2
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